Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing

(2010) Hane Lee et al.   BMC GENOMICS

Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome

(2010) Jeroen Breckpot et al.   European Journal of Medical Genetics

Ternary Complex of Transforming Growth Factor-β1 Reveals Isoform-specific Ligand Recognition and Receptor Recruitment in the Superfamily

(2010) Sergei Radaev et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line

(2010) Michael James Clark et al.   PLoS Genetics

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Progressive Tumor Formation in Mice with Conditional Deletion of TGF-  Signaling in Head and Neck Epithelia Is Associated with Activation of the PI3K/Akt Pathway

(2009) Y. Bian et al.   CANCER RESEARCH

Severe exacerbation of multiple self-healing squamous epithelioma (Ferguson-Smith disease) with radiotherapy, which was successfully treated with acitretin

(2009) S. J. Robertson et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novelFBN1mutations

(2009) B Söylen et al.   CLINICAL GENETICS

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations

(2009) V Tran-Fadulu et al.   JOURNAL OF MEDICAL GENETICS

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients

(2009) Bruno Drera et al.   Orphanet Journal of Rare Diseases

BFAST: An Alignment Tool for Large Scale Genome Resequencing

(2009) Nils Homer et al.   PLoS One

Transforming growth factor-β signaling in epithelial-mesenchymal transition and progression of cancer

(2009) Kohei MIYAZONO   PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES

Multiple Self-healing Squamous Epithelioma of Ferguson-Smith: Observations in a Danish Family Covering Four Generations

(2008) S Broesby-Olsen et al.   ACTA DERMATO-VENEREOLOGICA

Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

(2008) Chantal Stheneur et al.   HUMAN MUTATION